Canonical Allele Identifier: CA500009
Community Standard Title: NM_173076.3(ABCA12):c.196G>A (p.Gly66Arg)
Gene: ABCA12 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064187C>T , CM000664.2:g.215064187C>T GRCh38
NC_000002.11:g.215928910C>T , CM000664.1:g.215928910C>T GRCh37
NC_000002.10:g.215637155C>T NCBI36
NG_007074.1:g.79242G>A

Transcript Alleles

HGVS Amino-acid Change
NM_173076.3:c.196G>A MANE Select NP_775099.2:p.Gly66Arg
ENST00000272895.12:c.196G>A MANE Select ENSP00000272895.7:p.Gly66Arg
NM_173076.2:c.196G>A NP_775099.2:p.Gly66Arg
NR_103740.1:n.416G>A
NR_103740.2:n.614G>A
ENST00000272895.11:c.196G>A ENSP00000272895.7:p.Gly66Arg
XM_011510951.1:c.196G>A XP_011509253.1:p.Gly66Arg
XM_011510951.2:c.196G>A XP_011509253.1:p.Gly66Arg
XM_011510952.1:c.196G>A XP_011509254.1:p.Gly66Arg
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